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    1791 results match your criteria Pseudohypoparathyroidism

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    Femoral neck's fracture in Fahr's Syndrome: case report.
    Clin Cases Miner Bone Metab 2016 Sep-Dec;13(3):265-267. Epub 2017 Feb 10.
    Orthopaedics and Traumatology Department, University of Palermo, Palermo, Italy.
    Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail. During post-operative rehabilitation therapists's patient management was difficult due to obvious extrapyramidal symptoms characterized by dysarthria, rigidity, bradykinesia, postural instability. Read More

    Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes.
    Parkinsonism Relat Disord 2016 Dec 27. Epub 2016 Dec 27.
    Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK. Electronic address:
    Introduction: There are now a number genes, known to be associated with familial primary brain calcification (PFBC), causing the so called 'Fahr's' disease or syndrome. These are SCL20A2, PDGFB, PDGFRB and XPR1. In this systematic review, we analyse the clinical and radiological features reported in genetically confirmed cases with PFBC. Read More

    A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
    J Bone Miner Res 2017 Jan 13. Epub 2017 Jan 13.
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
    Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO). PHP1B is associated with epigenetic changes at one or several differentially-methylated regions (DMRs) within GNAS, which encodes the α-subunit of the stimulatory G protein (Gsα) and splice variants thereof. Heterozygous, maternally inherited STX16 or GNAS deletions leading to isolated loss-of-methylation (LOM) at exon A/B alone or at all maternal DMRs are the cause of autosomal dominant PHP1B (AD-PHP1B). Read More

    Raised intracranial pressure as a result of pansynostosis in a child with Albright's hereditary osteodystrophy.
    Childs Nerv Syst 2016 Dec 29. Epub 2016 Dec 29.
    Department of Neurosurgery, Aalborg University Hospital, Hobrovej 18-22, 9000, Aalborg, Denmark.
    Case: The authors describe the case of an 8-year-old boy with pansynostosis in the context of Albright's hereditary osteodystrophy (AHO). This condition had lead to raised intracranial pressure (ICP). The elevated ICP was a consequence of the rigid skull impeding brain growth. Read More

    Pseudohypoparathyroidism: one gene, several syndromes.
    J Endocrinol Invest 2016 Dec 19. Epub 2016 Dec 19.
    Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Thier 10, 50 Blossom Street, Boston, MA, 02114, USA.
    Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Read More

    Isolated PTH Renal Resistance Pseudohypoparathyroidism 1b: A Rare Cause of Hypocalcemia.
    JNMA J Nepal Med Assoc 2016 Jul-Sep;55(203):33-35
    Department of internal medicine, State University of New York (SUNY) Upstate, New York, USA.
    A case of Pseudohypoparathyroidism 1b is reported, who presented with signs and symptoms of hypocalcemia. Causes, diagnosis and management with new insight into genetic novel mutations in PHP are discussed. The objectives are to provide information regarding problems of Calcium balance, causes and making diagnosis of pseudohypoparathyroidism, learn complexities of PTH cellular interactions and calcium homeostasis and learn the genetic novel mutations of various types of PHP. Read More

    A novel mutation in a case of pseudohypoparathyroidism type Ia.
    Turk J Pediatr 2016 ;58(1):101-105
    Department of Clinical Genetics, Dr. Ersin Arslan Hospital, Gaziantep, Turkey.
    Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2. Read More

    Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications.
    Arch Endocrinol Metab 2016 Nov-Dec;60(6):532-536. Epub 2016 Nov 24.
    Serviço de Endocrinologia e Metabologia do Paraná (SEMPR), Universidade Federal do Paraná (UFPR), Curitiba, PR, Brasil.
    Objectives: To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities.

    Materials And Methods: Data from medical records of five different visits were obtained, focusing on therapeutic doses of calcium and vitamin D, on laboratory tests and renal ultrasonography (USG).

    Results: Fifty-five patients were identified, 42 females and 13 males; mean age of 44. Read More

    Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
    Pediatr Int 2016 Nov;58(11):1229-1231
    Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu City, Fukuoka, Japan.
    Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP-1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6-year-old male patient with sporadic PHP-1b incidentally detected on preoperative examination. Read More

    Nonclassic features of pseudohypoparathyroidism type 1A.
    Curr Opin Endocrinol Diabetes Obes 2017 Feb;24(1):33-38
    aDivision of Pediatric Endocrinology, Vanderbilt University, Nashville, TN bEndocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
    Purpose Of Review: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype.

    Recent Findings: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia. Read More

    Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
    Ital J Pediatr 2016 Nov 21;42(1):101. Epub 2016 Nov 21.
    Department of Public Health and Pediatric Sciences, University of Turin - Regina Margherita Children's Hospital - Health and Science City, Subintensiva Allargata Prima Infanzia, Piazza Polonia 94, 10126, Torino, Italy.
    Background: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders. Read More

    Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
    J Bone Miner Res 2016 Nov 18. Epub 2016 Nov 18.
    Department of Internal Medicine, Endocrine Research Institute, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
    It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. PHP1b is the result of resistance to PTH in certain end-organ tissues, especially the kidney; the response in bone is unaffected because it normally expresses stimulatory G protein equally from both parental alleles. Read More

    Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.
    J Pediatr Neurosci 2016 Jul-Sep;11(3):267-270
    Department of Pediatrics, Pediatric Endocrinology and Rare Diseases Unit, S. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.
    Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up. Read More

    [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].
    Biol Aujourdhui 2016 4;210(3):167-170. Epub 2016 Nov 4.
    Service de Génétique et Biochimie Moléculaires, AP-HP Hôpital Cochin, Paris, France et Centre de référence des maladies rares du métabolisme phosphocalcique, Filière OSCAR  - UMR-S 1169 Inserm-UP Sud, Le Kremlin-Bicêtre, France.
    Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a. Read More

    Hypocalcemic Cardiomyopathy and Pseudohypoparathyroidism Due to Severe Vitamin D Deficiency.
    J Assoc Physicians India 2016 Jun;64(6):74-76
    Senior Consultant Cardiologist, Batra Hospital and Medical Research Centre, New Delhi.
    Hypocalcemic cardiomyopathy is a rare entity. We describe a patient with severe heart failure, decreased ejection fraction and global hypokinesia documented on echocardiogram, associated with severe hypocalcemia, very low vitamin D status, increased QT intervals, increased BNP (serum brain natriuretic peptide) levels and CPK (creatine phosphokinase) levels. All these defects reversed on treatment with vitamin D and calcium within a few days without any specific cardiac intervention. Read More

    The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?
    Case Rep Med 2016 14;2016:7645938. Epub 2016 Sep 14.
    Division of Pediatric Endocrinology, McMaster Children's Hospital, Hamilton, ON, Canada.
    A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. Read More

    Families of Pseudohypoparathyroidism presenting as Seizure.
    J Assoc Physicians India 2015 Oct;63(10):71-4
    Resident, Department of Medicine, Pt. B. D. Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana.
    Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by variable insensitivity to parathyroid hormone. We describe two cases of 22 year male and 24 year female who have typical clinical features of Albright's hereditary osteodystrophy (AHO). Laboratory investigation revealed evidence of pseudohypoparathyroidism and skeletal survey showed shortening of the metacarpals and metatarsals. Read More

    A Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.
    Case Rep Endocrinol 2016 7;2016:2691385. Epub 2016 Aug 7.
    Division of Endocrinology, Diabetes, and Metabolism and The Institute for Human Genetics, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA.
    G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright's Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. Read More

    A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
    J Pediatr Endocrinol Metab 2016 Sep;29(9):1111-4
    Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. Read More

    Cataract in pseudohypoparathyroidism.
    J Cataract Refract Surg 2016 Jul;42(7):1094-6
    From the Department of Ophthalmology (Grajewski, K.R. Koch, Ciotu, Cursiefen, Heindl), University of Cologne, Cologne, and the Hochkreuzklinik Eye Hospital (H.-R. Koch), Bonn, Germany; the Department of Ophthalmology (Ciotu), University Emergency Hospital of Bucharest, Romania.
    Unlabelled: A 22-year-old white man presented with photopsia of 3-year duration despite a corrected distance visual acuity of 20/20 in both eyes. Ophthalmic examination revealed multiple irregularly shaped white cortical opacifications of the lens in both eyes but no other significant ocular findings. One year after the photopsia onset, the patient experienced an episode of seizures with generalized tonic-clonic movements. Read More

    A Case of Primary Hypogonadism with Features of Albright's Syndrome.
    J Reprod Infertil 2016 Jul-Sep;17(3):188-90
    Department of Endocrinology, Mission Hospital, Durgapur, West Bengal, India.
    Background: McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. Read More

    Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.
    J Clin Res Pediatr Endocrinol 2016 12 20;8(4):432-438. Epub 2016 Jul 20.
    Victor Jousselin Hospital, Clinic of Pediatrics and Neonatal Medicine, Pediatric Endocrinology Unit, Dreux, France, Phone: +33 2 37 51 53 13 E-mail:
    Objective: To evaluate the clinical signs and symptoms that would help clinicians to consider pseudohypoparathyroidism (PHP) type 1A as a diagnosis in a child.

    Methods: A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed. Read More

    The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
    J Clin Endocrinol Metab 2016 Oct 18;101(10):3657-3668. Epub 2016 Jul 18.
    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (F.M.E., E.V., P.B., G.M.), Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Milan, Italy; APHP (A.L., V.G., P.H.), Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'expertise Paris Sud Maladies Rares, Le Kremlin Bicêtre, France; INSERM U1169 (A.L., V.G., P.H.), Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France; Molecular (Epi)Genetics Laboratory (I.G., A.P., G.P.d.N.), BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain; Department of Public Health and Pediatrics (L.d.S., F.G.), University of Turin, Regina Margherita Children's Hospital, Health and Science City, Turin, Italy; Department of Biochemistry and Molecular Biology (A.P.), University of Basque Country, Leioa, Spain.
    Context: The term pseudohypoparathyroidism (PHP) was coined to describe the clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by genetic and/or epigenetic alterations within or upstream of GNAS. Although knowledge about PHP is growing, there are few data on the prevalence of underlying molecular defects.

    Objective: The purpose of our study was to ascertain the relative prevalence of PHP-associated molecular defects. Read More

    Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene.
    J Clin Res Pediatr Endocrinol 2016 Jul 18. Epub 2016 Jul 18.
    Pseudohypoparathyroidism-Ia is characterized by multihormone resistance and Albright hereditary osteodystrophy phenotype. It is caused by heterozygous mutations in GNAS gene. Clinical and biochemical findings of the patient were evaluated between 6. Read More

    Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.
    Genes Brain Behav 2016 Sep 24;15(7):669-77. Epub 2016 Aug 24.
    Neurology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
    Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism. Read More

    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
    Eur J Endocrinol 2016 Dec 11;175(6):P1-P17. Epub 2016 Jul 11.
    APHPReference Center for rare disorders of the Calcium and Phosphate Metabolism, filière OSCAR and Plateforme d'Expertise Maladies Rares Paris-Sud, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France
    Objective: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Read More

    Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism.
    J Epilepsy Res 2016 Jun 30;6(1):31-5. Epub 2016 Jun 30.
    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul;; Neuroscience Center, Samsung Medical Center, Seoul, Korea.
    Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter (WM) of their brain. Some of them are also epilepsy patients. Although cortical etiologies are main cause of epileptic seizure, cortical calcification has not been reported in these patients. Read More

    Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
    Am J Med Genet A 2016 Sep 23;170(9):2431-5. Epub 2016 Jun 23.
    Department of Medical Genetics, University Medical Centre, Utrecht, The Netherlands.
    Pseudohypoparathyroidism (PHP) is a genetic disorder with resistance to parathyroid hormone (PTH) as most important feature. Main subtypes of the disease are pseudohypoparathyroidism 1b (PHP1b) and pseudohypoparathyroidism 1a (PHP1a). PHP1b is characterized by PTH resistance of the renal cortex due to reduced activity of the stimulatory G protein α subunit (Gsα) of the PTH receptor. Read More

    Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
    J Clin Endocrinol Metab 2016 Jul 2;101(7):2623-7. Epub 2016 Jun 2.
    Departments of Molecular Endocrinology (A.N., K.M., S.S., M.K., M.F.) and Systems BioMedicine (K.O.) and Institute (Y.M.), National Research Institute for Child Health and Development, Tokyo 157-8535, Japan; Division of Endocrinology and Metabolism (R.H.), National Medical Center for Children and Mothers, Tokyo 157-8535, Japan; Department of Internal Medicine (E.H., Y.N.), Japanese Red Cross Kanazawa Hospital, Kanazawa 921-8162, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development (K.N.), Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan; Department of Reproductive Biology (A.U.), Center for Regenerative Medicine, National Institute for Child Health and Development, Tokyo 157-8535, Japan; Department of Pediatrics (T.T.), Jichi Children's Medical Center Tochigi, Shimotsuke 329-0498, Japan; and Department of Pediatrics (T.O.), Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
    Context: Pseudohypoparathyroidism type 1b (PHP-1b) results from methylation defects at the G protein stimulatory α subunit (GNAS) exon A/B-differentially methylated region (DMR). Although microduplications in the GNAS region were recently identified in two PHP-1b patients, genetic information on these patients remained fragmentary.

    Case Description: A 20-year-old Japanese male and his mother presented with hypocalcemia and elevated blood levels of intact PTH. Read More

    Chronic Hypoparathyroidism Due to Partial Thyroidectomy with Intracranial Calcification.
    Acta Med Indones 2016 Jan;48(1):68-9
    Department of Internal Medicine, Faculty of Medicine, Universitas Pelita Harapan-Siloam Hospital Lippo Village, Banten, Indonesia.
    A 57 year old female came with the complaint of recurrent headache, often fatigue, and sometimes feel numbs and rigid in her extremities, no other symptom was noted. Her body weight is stable and she was in menopausal state. She had a history of partial thyroidectomy 20 years ago and continues thiamazole 2. Read More

    [Pathophysiology of Hypoparathyroidism].
    Clin Calcium 2016 Jun;26(6):831-8
    Department of Bone and Mineral Research,Osaka Medical Center and Research Institute for Maternal and Child Health, Japan.
    Hypoparathyroidism in a broad sense is caused by a parathyroid hormone (PTH) deficiency or resistance, leading to hypocalcemia and hyperphosphatemia. PTH deficiency can be result from destruction or hypoplasia/agenesis of the parathyroid gland, or the impaired synthesis or secretion of PTH. On the other hand, PTH resistance is based on the disrupted transduction of its signaling and includes pseudohypoparathyroidism, Blomstrand lethal chondrodysplasia and acrodysostosis. Read More

    Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.
    BMJ Case Rep 2016 May 11;2016. Epub 2016 May 11.
    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
    Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). There are several different PHP1B subtypes that are all associated with methylation changes at GNAS. These epigenetic changes are caused by maternal deletions in GNAS or STX16, by paternal uniparental isodisomy of chromosome 20q (patUPD20q) or by undefined genetic mutations. Read More

    Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?
    J Hum Genet 2016 Aug 28;61(8):765-9. Epub 2016 Apr 28.
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
    Although recent studies have often revealed the presence of multilocus imprinting disturbance (MLID) at differentially methylated regions (DMRs) in patients with imprinting disorders (IDs), most patients exhibit clinical features of the original ID only. Here we report a Japanese female patient with Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib. Molecular studies revealed marked methylation defects (MDs) at the Kv-DMR and the GNAS-DMRs and variable MDs at four additional DMRs, in the absence of a mutation in ZFP57, NLRP2, NLRP7, KHDC3L and NLRP5. Read More

    Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.
    Nat Rev Endocrinol 2016 Jun 22;12(6):347-56. Epub 2016 Apr 22.
    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy.
    Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of the cAMP signalling pathway, rather than of the parathyroid hormone (PTH) receptor itself. Despite the first description of this disorder dating back to 1942, later findings have unveiled complex epigenetic alterations in addition to classic mutations in GNAS underpining the molecular basis of the main subtypes of pseudohypoparathyroidism. Moreover, mutations in PRKAR1A and PDE4D, which encode proteins crucial for Gsα-cAMP-mediated signalling, have been found in patients with acrodysostosis. Read More

    Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis.
    Eur J Med Genet 2016 May 4;59(5):290-4. Epub 2016 Apr 4.
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany. Electronic address:
    Progressive osseous heteroplasia (POH) is a segmental disorder characterized by progressive heterotopic ossification that extends from dermal and subcutaneous tissues to deeper structures. So far, it has been taken as a rarely occurring bone disease with autosomal dominant inheritance. Here, arguments are presented in favor of the alternative concept that the disorder is merely a type 2 segmental manifestation of autosomal dominant GNAS inactivation disorders. Read More

    Presentation of Hypoparathyroidism: Etiologies and Clinical Features.
    J Clin Endocrinol Metab 2016 Jun 4;101(6):2300-12. Epub 2016 Mar 4.
    Endocrine Research Unit (D.M.S.), San Francisco Department of Veterans Affairs Medical Center, University of California, San Francisco, California 94121; Department of Medicine (J.P.B., A.G.C.), Division of Endocrinology, Metabolic Bone Diseases Unit, Columbia University College of Physicians and Surgeons, New York, New York 10032; Department of Medicine (A.G.C.), Division of Endocrinology, São Paulo Federal University, São Paulo 04021-001, Brazil; Department of Pathology and Cell Biology (D.D.), Columbia University College of Physicians and Surgeons, New York, New York 10032; Regional Bone Center (D.D.), Helen Hayes Hospital, Haverstraw, New York 10993; Department of General, Visceral, and Vascular Surgery (H.D.), University Hospital, Medical Faculty, Martin-Luther-University Halle-Wittenberg, 06108 Halle/Saale, Germany; McMaster University Calcium Disorders Clinic (A.A.K.), Hamilton, Canada L8S 4K1; Department of Medicine (M.P.), Indiana University School of Medicine, Indianapolis, Indiana 46202; U.O. di Chirurgica Endocrina e Metabolica, Policlinico A. Gemelli (M.R.), Università Cattolica del Sacro Cuore, 00168 Rome, Italy; Department of Medicine (B.C.S.), University Center of Belo Horizonte, and Division of Endocrinology, Santa Casa de Belo Horizonte, Belo Horizonte 30150-21, Brazil; Academic Endocrine Unit (R.V.T.), Oxford University, Oxford Centre for Diabetes Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LI, United Kingdom; Section of Endocrinology (T.V.), Department of Medicine, University of Chicago, Chicago, Illinois 60637; and Clinic and Laboratory of Experimental Endocrinology (R.B.), Gasthuisberg, KU Leuven, 3000 Leuven, Belgium.
    Context: Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. This paper summarizes the results of the findings and recommendations of the Working Group on Presentation of Hypoparathyroidism.

    Evidence Acquisition: Experts convened in Florence, Italy, in May 2015 and evaluated the literature and recent data on the presentation and long-term outcomes of patients with hypoparathyroidism. Read More

    Epidemiology and Diagnosis of Hypoparathyroidism.
    J Clin Endocrinol Metab 2016 Jun 4;101(6):2284-99. Epub 2016 Mar 4.
    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.
    Context: Hypoparathyroidism is a disorder characterized by hypocalcemia due to insufficient secretion of PTH. Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH. This report summarizes the results of the findings and recommendations of the Working Group on Epidemiology and Diagnosis of Hypoparathyroidism. Read More

    Radiological Features of Long-Standing Hypoparathyroidism.
    Pol J Radiol 2016 8;81:42-5. Epub 2016 Feb 8.
    Department of Radiology, Medical College and SSG Hospital, Vadodara, India.
    Background: Idiopathic hypoparathyroidism is an extremely rare endocrinal disorder with a prevalence of 37 per 100,000. Herein we presented a case of a 30-year-old male who came with symptoms of muscle weakness, carpopedal spasms and limitation of movement which gradually progressed over 8 years.

    Case Report: A 30-year-old male patient presented in an outpatient department of a tertiary care centre with a complaint of severe pain in both hip joints. Read More

    Spondyloarthropathy-Like Findings and Diffuse Osteosclerosis as the Presenting Feature of Pseudohypoparathyroidism.
    J Clin Rheumatol 2016 Mar;22(2):102-4
    Department of Rheumatology, King George's Medical University, Lucknow, India Department of Rheumatology, King George's Medical University, Lucknow, India Department of Radiology, King George's Medical University, Lucknow, India Department of Rheumatology, King George's Medical University, Lucknow, India.

    Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels.
    Bone 2016 Apr 5;85:138-41. Epub 2016 Feb 5.
    Osteometabolic Disorders Unit, Hormone and Molecular Genetics Laboratory (LIM-42), Endocrinology Department, Hospital das Clínicas, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, Prédio dos ambulatórios (PAMB), 8° andar, Bloco 3, CEP: 05403-900, São Paulo, SP, Brazil. Electronic address:
    Background: Pseudohypoparathyroidism (PHP) is a genetic disorder characterized by resistance to the peripheral action of PTH due to maternally inherited heterozygous inactivating mutations in the coding sequence of Gsα or intronic regions of GNAS leading to aberrant splice variants (PHP1A), or methylation defects at GNAS (PHP1B). Brachydactyly is a clinical feature associated with both PHP1A and PHP1B, although it is more frequent in PHP1A patients. Loss-of-function mutations in PTHLH, the gene coding for parathyroid hormone related protein (PTHrP) were previously described in some patients with brachydactyly. Read More

    Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
    Clin Epigenetics 2016 26;8:10. Epub 2016 Jan 26.
    Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Campus Gasthuisberg, O&N1, Herestraat 49, Box 911, 3000 Leuven, Belgium.
    Background: Pseudohypoparathyroidism (PHP) is caused by (epi)genetic defects in the imprinted GNAS cluster. Current classification of PHP patients is hampered by clinical and molecular diagnostic overlaps. The European Consortium for the study of PHP designed a genome-wide methylation study to improve molecular diagnosis. Read More

    Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.
    J Bone Miner Res 2016 Jun 9;31(6):1215-24. Epub 2016 Feb 9.
    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
    The cyclic adenosine monophosphate (cAMP) intracellular signaling pathway mediates the physiological effects of several hormones and neurotransmitters, acting by the activation of G-protein coupled receptors (GPCRs) and several downstream intracellular effectors, including the heterotrimeric stimulatory G-protein (Gs), the cAMP-dependent protein kinase A (PKA), and cAMP-specific phosphodiesterases (PDEs). Defective G-protein-mediated signaling has been associated with an increasing number of disorders, including Albright hereditary osteodistrophy (AHO) and pseudohypoparathyroidism (PHP), a heterogeneous group of rare genetic metabolic disorders resulting from molecular defects at the GNAS locus. Moreover, mutations in PRKAR1A and PDE4D genes have been recently detected in patients with acrodysostosis (ACRDYS), showing a skeletal and endocrinological phenotype partially overlapping with AHO/PHP. Read More

    Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.
    J Clin Endocrinol Metab 2016 Mar 28;101(3):880-8. Epub 2015 Dec 28.
    Division of Endocrinology and Diabetes (J.D.R., S.M., A.C., M.A.L.), Division of General Pediatrics (J.D.), and Division of Gastroenterology, Hepatology and Nutrition (V.G., B.S.Z., V.A.S.), The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104; Division of Gastroenterology, Hepatology and Nutrition (V.G.), Ste-Justine University Hospital Center, University of Montreal, Montreal, QC, H3T 1C4 Canada; Division of Endocrinology, Department of Pediatrics (J.H., E.S.), The Hospital for Sick Children, University of Toronto, ON, M5G 1X8 Canada; Merck & Co, Inc. (A.T.), Kenilworth, New Jersey 07033.
    Context: Pseudohypoparathyroidism type 1A (PHP1A) is caused by loss-of-function mutations on the maternally inherited GNAS allele and is associated with early-onset obesity, neurocognitive defects, and resistance to multiple hormones. The role of energy intake vs central regulation of energy expenditure in the pathophysiology of obesity remains unclear.

    Objective: The aim of this study was to evaluate resting energy expenditure (REE) in participants with PHP1A. Read More

    Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.
    Endocrinology 2016 Feb 15;157(2):497-507. Epub 2015 Dec 15.
    Endocrine Unit (Z.Y., Q.H., C.A., H.J., M.B.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; Department of Endodontics (C.A.), Gülhane Military Medical Academy, 06018 Ankara, Turkey; Faculty of Medicine (I.R., M.T.), Université de Nice Sophia Antipolis, 06107 Nice, France; Metabolic Diseases Branch (M.C., L.S.W.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892; Program in Membrane Biology (V.M.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
    PTH regulates serum calcium, phosphate, and 1,25-dihydroxyvitamin D (1,25(OH)2D) levels by acting on bone and kidney. In renal proximal tubules (PTs), PTH inhibits reabsorption of phosphate and stimulates the synthesis of 1,25(OH)2D. The PTH receptor couples to multiple G proteins. Read More

    Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b.
    Pediatr Nephrol 2016 May 1;31(5):795-800. Epub 2015 Dec 1.
    Bone and Mineral Disorder Clinic, Section of Nephrology, The Children's Mercy Hospitals and Clinics, University of Missouri at Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.
    Background: In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the G-protein α-subunit, skeletal disorders can arise from the bones being sensitive to parathyroid hormone (PTH) while the kidneys remain resistant to this hormone.

    Case-diagnosis/treatment: We report a 4.8-year-old girl with PHP1b who presented with an abnormal gait, severe skeletal changes and elevated levels of serum PTH (2844 pg/ml), phosphate (7. Read More

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